About The Medical Condition Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase
Find the definition of the medical term Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase. Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase
| Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase Medical Condition |
|---|
What's The Definition Of The Medical Condition Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase?
An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Abrin A ‐ A toxic lectin from the seeds of jequirity, Abrus precatorius…
- Forneau 933 ‐ A benzodioxane alpha-adrenergic blocking agent with considerable…
- Polymyositides ‐ Diseases characterized by inflammation involving multiple muscles.…
- Human Combustibilities, Preternatural ‐ A circumstance where a substance or organism takes fire and burns…
- Vagus Nerve Sensory Disorder ‐ Diseases of the tenth cranial nerve, including brain stem lesions…
- Histamine Binding Sites ‐ Cell-surface proteins that bind histamine and trigger intracellular…
- Immunologic Tumoricidal Activities ‐ The phenomenon of target cell destruction by immunologically…
- Generalized Seizures ‐ Clinical or subclinical disturbances of cortical function due…
- Models, Laboratory Animal ‐ Non-human animals, selected because of specific characteristics,…
- DNA Profiling ‐ A procedure in which multilocus band patterns of a DNA sample…